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11,212 Possible Causes for activity, decarboxylase, orotodylate

  • Porphyria Cutanea Tarda

    The difference in erythrocyte enzymatic activity between men and women was not explained but could have been due to estrogens.[ncbi.nlm.nih.gov] Google Scholar Find articles by Barbuto, A. in: JCI PubMed Google Scholar Find articles by Lee, G. in: JCI PubMed Google Scholar Abstract Uroporphyrinogen decarboxylase activity[doi.org] The UROD activity at the optimal cutoff had a likelihood ratio (LR) of 9.2 for fPCT, whereas a positive family history had an LR of 19.[ncbi.nlm.nih.gov]

    Missing: orotodylate
  • Hepatoerythropoietic Porphyria

    Erythrocyte UROD activity was 42% of normal and higher than the activity found in patients with HEP with a G281E mutation.[ncbi.nlm.nih.gov] Abstract Hepatoerythropoietic porphyria (HEP) is due to a marked deficiency of uroporphyrinogen (URO) decarboxylase, a cytosolic enzyme in the heme biosynthetic pathway.[ncbi.nlm.nih.gov] […] cutanea tarda, we used a human URO decarboxylase cDNA to analyze the organization and expression of the URO decarboxylase gene in lymphoblastoid cells from normal individuals[ncbi.nlm.nih.gov]

    Missing: orotodylate
  • Stiff-Person Syndrome

    Activity Exercise or physical therapy may be helpful in preserving range of motion and in relieving symptoms related to prolonged muscle tension.[emedicine.medscape.com] IMPORTANCE: High titers of autoantibodies to glutamic acid decarboxylase (GAD) are well documented in association with stiff person syndrome (SPS).[ncbi.nlm.nih.gov] To support these findings, a test that evaluates muscle activity and nerve signaling called electromyography (EMG) is used, which will show continuous activity of neurons[symptoma.com]

    Missing: orotodylate
  • Dopamine Beta-Hydroxylase Deficiency

    Abstract Patients with autonomic failure secondary to dopamine beta-hydroxylase deficiency lack the enzyme activity necessary for the conversion of dopamine to norepinephrine[ncbi.nlm.nih.gov] […] dopamine-beta-hydroxylase deficiency was treated with the unnatural aminoacid D,L-threo-3,4-dihydroxyphenylserine (DOPS) in the hope that it would serve as a substrate of aromatic-L-aminoacid decarboxylase[ncbi.nlm.nih.gov] In vitro l-DOPS may serve as a substrate for aromatic-l-amino-acid decarboxylase (ALAAD) to form physiological (-)-noradrenaline.[ncbi.nlm.nih.gov]

    Missing: orotodylate
  • Influenza

    Seasonal influenza activity in the Southern Hemisphere was low overall, with influenza A(H1N1)pdm09 predominating in many regions.[ncbi.nlm.nih.gov] Several lipoglycopeptides were also found to be active against human coronavirus. Copyright 2018 Elsevier Masson SAS. All rights reserved.[ncbi.nlm.nih.gov] Nationally, ILI activity began increasing in November, reaching an extended period of high activity during January-February, and remaining elevated through March.[ncbi.nlm.nih.gov]

    Missing: decarboxylase orotodylate
  • Aromatic L-Amino Acid Decarboxylase Deficiency

    The diagnosis was confirmed by the lack of AADC activity in plasma, and a point mutation in the AADC gene.[ncbi.nlm.nih.gov] Simplified assays for human plasma L-dopa decarboxylase and liver L-dopa and 5-hydroxytryptophan decarboxylase, used to demonstrate the enzyme deficiency, are also reported[ncbi.nlm.nih.gov] Pyridoxal 5'-phosphate, the AADC cofactor may stabilize AADC and could increase AADC activity.[ncbi.nlm.nih.gov]

    Missing: orotodylate
  • Hepatoerythropoietic Oorphyria

    Subnormal URO-D activity results in accumulation of uroporphyrin in the liver, which ultimately mediates the photosensitivity that clinically characterizes HEP.[pubfacts.com] The mildness of the clinical symptoms in the proband correlated with a higher level of residual enzyme activity than that in previously described patients.[nejm.org] Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.[repub.eur.nl]

    Missing: orotodylate
  • Adrenal Insufficiency

    CONCLUSION: Modification and inhibition of S1P lyase activity by the long-term therapeutic use of fingolimod is not associated with adrenal insufficiency in adult patients[ncbi.nlm.nih.gov] Nicolas Kluger, Martta Jokinen, Anu Lintulahti, Kai Krohn and Annamari Ranki , Gastrointestinal immunity against tryptophan hydroxylase-1, aromatic L-amino-acid decarboxylase[doi.org] RESULTS: The patient was compound heterozygous for two novel CYP11A1 mutations, p.R360W and p.R405X. p.R360W retained 30-40% of wild-type activity.[ncbi.nlm.nih.gov]

    Missing: orotodylate
  • Upper Respiratory Infection

    […] in recreational activity.[doi.org] Activation of T2R38 in sinonasal epithelial cells stimulates nitric oxide production, increasing ciliary beating and directly killing bacteria.[ncbi.nlm.nih.gov] Receptor activation regulates calcium-dependent NO production, resulting in stimulation of mucociliary clearance and direct antibacterial effects.[ncbi.nlm.nih.gov]

    Missing: decarboxylase orotodylate
  • Nonketotic Hyperglycinemia

    The activity of the T-protein was normal.[ncbi.nlm.nih.gov] KEYWORDS: GLDC gene; glycine decarboxylase; glycine metabolism; nonketotic hyperglycinemia[ncbi.nlm.nih.gov] Genetic testing detected a known and a novel mutation in the glycine decarboxylase gene, leading to the classic form of glycine encephalopathy.[ncbi.nlm.nih.gov]

    Missing: orotodylate